Molecular Genetic Testing
Myeloproliferative disorders (JAK2-mutation)

Indication and Diagnostic Value

The Janus-kinase 2 (JAK2) is a tyrosine kinase, which plays a crucial role in regulation of normal haematopoetic cell proliferation. One single somatic mutation designated as Val617Phe in exon 14 of JAK2 constitutively activates the kinase thus promoting development of myeloproliferative diseases by clonal growth of haematopoetic cells. According to a report in Lancet 365, 1054 (2006) the JAK 2 mutation helps to diagnose patients with basic myeloproliferative disorders such as Polycythemia Vera (up to 97% of all patients are mutation carriers), essential Thrombocythemia (carrier frequency is 57%) and Idiopathic Myelofibrose (carrier frequency about 50%). Carriers are characterized by a prolonged course of the disease, and by a higher degree of complications (N. Engl. J. Med. 352,1779,2005). In CML-patients the mutation has not been found.

Samples and Test Method

Either cells of bone marrow or peripheral blood cells suspended in heparine must be shipped. The allele specific PCR allows to unambiguously determine the mutation Val617Phe in Exon 14 of the JAK2-Gene. Provided that at least 15% of the cells are carrying the mutation, the test reaches specificity close to 100%.

Turnaround time for this test is 2 weeks.

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